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Gene

Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 4549 MT-RNR1 ID: 4549	mitochondrially encoded 12S RNA [Homo sapiens (human)]	Chromosome MT, NC_012920.1 (648..1601)	MTRNR1, RNR1
Select item 2707 GJB3 ID: 2707	gap junction protein beta 3 [Homo sapiens (human)]	Chromosome 1, NC_000001.11 (34781214..34786364)	CX31, DFNA2, DFNA2B, EKV, EKVP1	603324
Select item 5172 SLC26A4 ID: 5172	solute carrier family 26 member 4 [Homo sapiens (human)]	Chromosome 7, NC_000007.14 (107660828..107717809)	DFNB4, EVA, PDS, TDH2B	605646
Select item 2706 GJB2 ID: 2706	gap junction protein beta 2 [Homo sapiens (human)]	Chromosome 13, NC_000013.11 (20187470..20192938, complement)	BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK	121011
Select item 55687 TRMU ID: 55687	tRNA mitochondrial 2-thiouridylase [Homo sapiens (human)]	Chromosome 22, NC_000022.11 (46335714..46357340)	LCAL3, MTO2, MTU1, TRMT, TRMT1	610230
Select item 4513 MT-CO2 ID: 4513	mitochondrially encoded cytochrome c oxidase II [Homo sapiens (human)]	Chromosome MT, NC_012920.1 (7586..8269)	COII, MTCO2, COX2
Select item 4508 MT-ATP6 ID: 4508	mitochondrially encoded ATP synthase 6 [Homo sapiens (human)]	Chromosome MT, NC_012920.1 (8527..9207)	ATPase6, MTATP6, ATP6